Incidental Mutation 'IGL01625:Slamf8'
ID 92721
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slamf8
Ensembl Gene ENSMUSG00000053318
Gene Name SLAM family member 8
Synonyms 5830408F06Rik, SBBI42, Blame
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01625
Quality Score
Status
Chromosome 1
Chromosomal Location 172409325-172418135 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 172410049 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 267 (D267Y)
Ref Sequence ENSEMBL: ENSMUSP00000067527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065679]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000065679
AA Change: D267Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000067527
Gene: ENSMUSG00000053318
AA Change: D267Y

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Blast:IG 28 120 7e-57 BLAST
Blast:IG_like 136 215 3e-35 BLAST
SCOP:d1iray2 143 213 3e-4 SMART
transmembrane domain 234 256 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the CD2 family of cell surface proteins involved in lymphocyte activation. These proteins are characterized by Ig domains. This protein is expressed in lymphoid tissues, and studies of a similar protein in mouse suggest that it may function during B cell lineage commitment. The gene is found in a region of chromosome 1 containing many CD2 genes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased Nox2 activity in macrophage. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik T A 5: 144,979,957 (GRCm39) H37Q possibly damaging Het
Akr1c19 T A 13: 4,283,816 (GRCm39) I16N probably damaging Het
Arpc1b T C 5: 145,058,555 (GRCm39) probably null Het
Bzw1 A G 1: 58,440,599 (GRCm39) T191A probably benign Het
Cacna1h G A 17: 25,604,686 (GRCm39) T1209I possibly damaging Het
Cacna1h T C 17: 25,602,459 (GRCm39) D1523G probably damaging Het
Cdc20b T C 13: 113,196,319 (GRCm39) L148P possibly damaging Het
Cubn A G 2: 13,311,085 (GRCm39) F3147L possibly damaging Het
Dagla A G 19: 10,228,566 (GRCm39) probably benign Het
Dnah9 T C 11: 65,935,471 (GRCm39) N1983D probably damaging Het
Fbxw10 G A 11: 62,750,853 (GRCm39) D479N probably damaging Het
Fer A T 17: 64,344,621 (GRCm39) Q630L probably damaging Het
Gbp5 A G 3: 142,208,789 (GRCm39) N111D probably damaging Het
Gm8127 T G 14: 43,148,520 (GRCm39) probably benign Het
Heatr1 T A 13: 12,428,409 (GRCm39) N814K probably damaging Het
Iba57 G A 11: 59,049,775 (GRCm39) R191W probably damaging Het
Itgae C A 11: 73,010,263 (GRCm39) F584L probably benign Het
Kdm5b A G 1: 134,545,706 (GRCm39) K956E possibly damaging Het
Muc4 C T 16: 32,575,918 (GRCm39) probably benign Het
Mybpc2 T C 7: 44,166,337 (GRCm39) K218E possibly damaging Het
Pcdh10 T C 3: 45,333,832 (GRCm39) S49P probably damaging Het
Prss3b A C 6: 41,009,882 (GRCm39) S151A probably benign Het
Rai14 T C 15: 10,572,460 (GRCm39) D889G probably benign Het
Rbpjl A G 2: 164,249,705 (GRCm39) K102R possibly damaging Het
Retreg2 A G 1: 75,121,359 (GRCm39) probably benign Het
Rfc4 A T 16: 22,934,573 (GRCm39) L149Q probably damaging Het
Rft1 T A 14: 30,398,853 (GRCm39) D274E possibly damaging Het
Rlf A T 4: 121,045,457 (GRCm39) S143R possibly damaging Het
Rptn T A 3: 93,305,201 (GRCm39) S845T probably benign Het
Smoc2 C T 17: 14,545,876 (GRCm39) S55L probably damaging Het
Sptan1 C T 2: 29,916,126 (GRCm39) A2038V probably damaging Het
Stx17 C A 4: 48,181,526 (GRCm39) P210T probably damaging Het
Tbc1d5 A G 17: 51,224,601 (GRCm39) Y317H probably benign Het
Tenm4 C A 7: 96,534,565 (GRCm39) T1737N probably damaging Het
Tesk2 T C 4: 116,628,998 (GRCm39) F116L possibly damaging Het
Tln2 T C 9: 67,277,905 (GRCm39) S370G probably damaging Het
Tm6sf2 G T 8: 70,528,733 (GRCm39) G162C probably null Het
Togaram2 A C 17: 72,021,693 (GRCm39) E718D probably benign Het
Ttn A C 2: 76,578,327 (GRCm39) F15862V probably damaging Het
Uba6 T A 5: 86,268,388 (GRCm39) R916* probably null Het
Umodl1 A G 17: 31,215,229 (GRCm39) M1018V probably benign Het
Wdr26 G A 1: 181,019,381 (GRCm39) T332I possibly damaging Het
Xdh A T 17: 74,223,781 (GRCm39) probably null Het
Other mutations in Slamf8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02792:Slamf8 APN 1 172,415,697 (GRCm39) missense probably damaging 1.00
IGL03126:Slamf8 APN 1 172,411,736 (GRCm39) missense possibly damaging 0.73
R1635:Slamf8 UTSW 1 172,412,186 (GRCm39) missense probably damaging 1.00
R1791:Slamf8 UTSW 1 172,412,087 (GRCm39) nonsense probably null
R1792:Slamf8 UTSW 1 172,415,526 (GRCm39) missense possibly damaging 0.71
R4785:Slamf8 UTSW 1 172,411,781 (GRCm39) missense probably damaging 1.00
R6743:Slamf8 UTSW 1 172,417,965 (GRCm39) critical splice donor site probably null
R6974:Slamf8 UTSW 1 172,415,590 (GRCm39) missense probably damaging 1.00
R7222:Slamf8 UTSW 1 172,411,775 (GRCm39) missense possibly damaging 0.73
R7663:Slamf8 UTSW 1 172,415,605 (GRCm39) missense possibly damaging 0.92
R7802:Slamf8 UTSW 1 172,415,677 (GRCm39) missense probably damaging 0.99
R9748:Slamf8 UTSW 1 172,411,800 (GRCm39) missense probably benign 0.17
Posted On 2013-12-09